BRCAMap - Germline

Breast cancer is a significant health concern worldwide, affecting nearly 12% of women in the general population. In India, the incidence is even higher, with 1 in 28 women diagnosed in their lifetime. The BRCA1 and BRCA2 genes play a critical role in maintaining DNA integrity and preventing uncontrolled cell growth. Mutations in these genes compromise DNA repair mechanisms, leading to an increased risk of breast, ovarian, prostate, and pancreatic cancers.

BRCAMap - Germline test is a targeted next-generation sequencing (NGS) panel designed to detect pathogenic or likely pathogenic mutations in BRCA1 and BRCA2. The test covers the entire coding region of both genes, enabling the detection of a wide range of genetic alterations, including point mutations, small insertions/deletions, and large rearrangements. This comprehensive evaluation allows for accurate risk assessment in individuals with a personal or family history of cancer.

The test is performed on germline samples (blood) to assess inherited risk in unaffected individuals. It helps identify whether mutations in BRCA genes are present, enabling early monitoring, preventive measures, and informed clinical management decisions.

Doctors may recommend the BRCAMap - Germline for individuals who have a strong family history of breast, ovarian, fallopian tube, peritoneal, prostate, or pancreatic cancer. It is also advised for those with a personal history of breast or ovarian cancer, particularly if diagnosed at a young age, with bilateral cancers, or rare subtypes. Individuals of Ashkenazi Jewish or Eastern European descent may be considered for testing due to a higher prevalence of BRCA mutations in these populations. The test is relevant for male breast cancer patients as well as for anyone with known BRCA1 or BRCA2 mutations in their family.

For this test, it is important to submit the clinical history, histopathology report, previous test results, and a doctor’s prescription at the time of sample collection. The Tata 1mg consolidated Test Requisition Form (TRF) must also be duly filled and submitted along with the bone marrow sample.

Lab test results may vary across different laboratories. Abnormal test results require an expert interpretation. Therefore, never try to self-medicate at home based solely on these results, and always consult a doctor for a proper understanding of the test results.

Note: Post-test genetic counseling can be provided. If interested, please send the request to this email id: [email protected]